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Newborn screening helps to identify babies who are at risk of developing serious disorders. This is pivotal because a baby may not have any early signs or symptoms of a disorder at the time of birth. Newborn screening identifies conditions that can affect a child's long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. 

Newborn Screening is used to identify babies who are at risk for serious disorders that are treatable but may not be apparent at birth. NBS is a standard of care and is strongly recommended for all babies at birth.​

Testing every newborn is important because a newborn may not have any signs or symptoms of problems at birth. Without NBS, an early diagnosis may be missed, leading to serious health problems including mental and physical impairment, sometimes even life-threatening conditions. Most affected babies do not have a family history so every baby may potentially be at risk and should be screened.​​

There are various ways of doing NBS for different disorders. One way is by collecting a few drops of blood from the baby's heal with a heal prick, on a filter paper.

 For newborn hearing screening, a small device called otoacoustic emission monitor is used to test a baby's hearing capacity.​

NBS for disorders, which are detected through heal prick are ideally collected between 48 to 72 hours of life.​
NBS is completely safe. Some babies cry when their heal is pricked but the discomfort is only maomentary and does not require any treatment.​

If your baby's NBS is abnormal for any of the disorders included in the screening, and the baby is admitted, their doctor would be notified, and they will let you know. If tests are done in outpatient setting, you will be informed about the results when you collect the reports.

An abnormal NBS results does not necessarily mean that your baby has a disorder. Your doctor will guide you about the next essential steps to confirm or exclude different disease​.

Only abnormal results are communicated. You are encouraged to discuss your baby's NBS result when you bring them in for their regular follow-ups.

NBS results without any abnormalities do not always rule out disorders or diseases. In case the baby shows any signs and symptoms of a disease, you should bring them in for a complete evaluation.​

Sometimes there is a need to repeat Newborn Screening. This happens:

  • If there was an improper/inadequate sample collection.
  • If NBS was collected after baby had received a blood transfusion.
  • If NBS results are discordant (not similar) in twins/triplet births.
  • If required as per the decision of primary physician.

For newborn hearing a repeat screening may be needed in case vernix or wax is detected.

At present, the following disorders are included in the NBS at AKUH:

  • Argininemia
  • Arginosuccinic Aciduria​
  • Citrullinemia Type 1&2​
  • ​Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • Glutaric Aciduria Type 1​
  • Homocystinuria​
  • Isovaleric Acidemia​
  • Maple Syrup Urine Disease
  • Methylmalonic Acidemia​
  • Propionic Acidemia​